Hs02203978_cn

• Gene Symbol: CAMTA2
• Assay Reference Genome Location: Chr.17:4968057 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 23125
• Gene Name: calmodulin binding transcription activator 2
• Gene Aliases: -
• Location: Chr.17:4967992-4988297 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CAMTA2	NM_001171166.1	21	4329	NP_001164637.1
	NM_001171167.1	23	4787	NP_001164638.1
	NM_001171168.1	22	4717	NP_001164639.1
	NM_015099.3	23	4445	NP_055914.2
	XM_006721478.3	23	5092	XP_006721541.1
	XM_006721481.3	22	5005	XP_006721544.1
	XM_006721482.3	21	4138	XP_006721545.1
	XM_011523746.2	23	4452	XP_011522048.1
	XM_011523747.2	23	4436	XP_011522049.1
	XM_011523748.2	22	4430	XP_011522050.1
	XM_011523749.2	22	4414	XP_011522051.1
	AB020716.1	23	4406
	AL831849.1	22	4717	CAD38553.1
	AL833974.1	21	4314	CAD38818.2
	BC010050.2	14	2837	AAH10050.2
	BC016163.1	10	2064	AAH16163.1
	BC032381.1	7	1460	AAH32381.1
	BC142695.1	23	4436
	BC167148.1	23	4406
	BC167149.1	23	4406
	BC167151.1	23	4406
	BC167160.1	23	4406

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833350	Chr.17:4884713 - 5060776 on Build GRCh38	Loss	LOC101927979 SPAG7 KIF1C RNF167 GP1BA PFN1 LOC102724009 MINK1 MIR6864 INCA1 ENO3 CAMTA2 SLC52A1 SLC25A11 C17orf107 MIR6865 CHRNE
nsv833349	Chr.17:4853631 - 4991300 on Build GRCh38	Loss	LOC101927979 SPAG7 RNF167 GP1BA PFN1 MINK1 MIR6864 INCA1 ENO3 CAMTA2 SLC25A11 C17orf107 MIR6865 CHRNE
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	SPAG7 ZNF594 KIF1C RNF167 GP1BA PFN1 C1QBP ZNF232 LOC100130950 VMO1 ARRB2 MINK1 MIR6864 INCA1 ENO3 LOC400568 CXCL16 ZFP3 SLC25A11 C17orf107 SCIMP MIR6865 ZMYND15 PSMB6 LOC101927979 LOC101559451 TM4SF5 LOC101928000 GLTPD2 RABEP1 MED11 SMTNL2 USP6 LOC102724009 LOC107984973 ALOX15 CAMTA2 DHX33 SLC52A1 PELP1 RPAIN NUP88 PLD2 CHRNE

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
cardiac muscle hypertrophy in response to stress
positive regulation of transcription from RNA polymerase II promoter

Function(s)

transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
protein binding
transcription factor binding
histone deacetylase binding
sequence-specific DNA binding